VERY EARLY DIAGNOSIS AND MANAGEMENT OF CONGENITAL ERYTHROPOIETIC
PORPHYRIA AT BIRTH
Abstract
Congenital erythropoietic porphyria (CEP) is caused by a defect in the
heme biosynthesis pathway of the enzyme uroporphyrinogen III synthase
(UROS) leading to an accumulation of non-physiological porphyrins. The
exposure of accumulated porphyrins to sunlight causes severe
photosensitivity, chronic intravascular hemolysis and, eventually,
irreversible mutilating deformities. Several supportive therapies such
as strict sun avoidance, physical sunblocks, red blood cells
transfusion, hydroxyurea and splenectomy are commonly used in the
management of CEP. Currently, the only available curative treatment of
CEP is HSCT. We present a child with a very early diagnosis of CEP, who
became the youngest successful HSCT for CEP.